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LRRC27

Synonyms
-
External resources

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
52
Likely pathogenic
14
VUS
3,189
Likely benign
73
Benign
0

Patient phenotypes

Proportions of phenotypes among 66 patients carring pathogenic or likely pathogenic variants on LRRC27 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
31.8%
Abnormality of head or neck
22.7%
Abnormality of the eye
19.7%
Abnormality of limbs
18.2%
Abnormality of the ear
13.6%
Abnormality of the integument
13.6%
Growth abnormality
13.6%
Abnormality of the genitourinary system
12.1%
Abnormality of the cardiovascular system
10.6%
Abnormality of the digestive system
9.1%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the respiratory system
6.1%
Abnormality of prenatal development or birth
1.5%
Abnormality of the endocrine system
1.5%
Abnormality of the immune system
1.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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